Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.Y629C

NUP93

219 papers

RefSeq Summary

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporin...

Pfam Domains

Nic96aa 218–810UCSCNup93/Nic96

Gene Aliases

HGNC Name

nucleoporin 93

HGNC Alias Symbol

KIAA0095

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_014669.5
p.Y629C
c.1886A>G
Surrounding Variants
1 paper
NM_014669.5
p.D630N
c.1888G>A
2 papers
NM_014669.5
p.K633Q
c.1897A>C
1 paper
NM_014669.5
p.K633_N634Splc
c.1899+4A>G
1 paper
NM_014669.5
p.A613delFs
c.1839delT
1 paper
NM_014669.5
p.A613fs
c.1837_1838fs
1 paper
NM_014669.5
p.T602I
c.1805C>T
1 paper
NM_014669.5
p.G596E
c.1787G>A
1 paper
NM_014669.5
p.K633_N634Splc
c.1900-138C>G
3 papers
NM_014669.5
p.K637E
c.1909A>G
1 paper
NM_014669.5
p.K637R
c.1910A>G
6 papers
NM_014669.5
p.L639P
c.1916T>C
1 paper
NM_014669.5
p.M642I
c.1926G>A
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